A
Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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Journal ArticleDOI
The Baller-Gerold syndrome.
TL;DR: A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation.
Journal ArticleDOI
Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion
Dominique Bremond-Gignac,John A. Crolla,Henri Copin,Agnès Guichet,Dominique Bonneau,Laurence Taine,Didier Lacombe,Clarisse Baumann,Brigitte Benzacken,Alain Verloes +9 more
TL;DR: This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested.
Journal ArticleDOI
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
Marie Gomot,Chantal Gendrot,Alain Verloes,Martine Raynaud,Albert David,Helger G. Yntema,Sabine Dessay,Vera M. Kalscheuer,S Frints,Philippe Couvert,Sylvain Briault,Sophie Blesson,Annick Toutain,Jamel Chelly,Vincent Desportes,Claude Moraine +15 more
TL;DR: Phenotype–genotype correlation could thus be suspected and is discussed in these three families of increasing severity, andRegression of language skills was suspected in three patients.
Journal ArticleDOI
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Chloé Quélin,Philippe Loget,Alain Verloes,Anne Bazin,Bettina Bessières,Annie Laquerrière,Sophie Patrier,Romulus Grigorescu,Férechté Encha-Razavi,Sophie Delahaye,Jean-Marie Jouannic,Bruno Carbonne,Dominique D’Hervé,Marie-Cécile Aubry,G. Macé,Thierry Harvey,Yves Ville,Géraldine Viot,N. Joye,Sylvie Odent,Tania Attié-Bitach,Claude Wolf,Françoise Chevy,Pascale Benlian,Marie Gonzales +24 more
TL;DR: The observed malformation of ulnar hypoplasia proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS.
Journal ArticleDOI
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek,Kornelia Ellwanger,Lisenka E.L.M. Vissers,Rebecca Schüle,Rebecca Schüle,Matthis Synofzik,Matthis Synofzik,Ana Töpf,Richarda M. de Voer,Steven Laurie,Leslie Matalonga,Christian Gilissen,Stephan Ossowski,Peter A C 't Hoen,Antonio Vitobello,Julia M. Schulze-Hentrich,Olaf Riess,Han G. Brunner,Han G. Brunner,Anthony J. Brookes,Ana Rath,Gisèle Bonne,Gulcin Gumus,Alain Verloes,Nicoline Hoogerbrugge,Teresinha Evangelista,Tina Harmuth,Morris A. Swertz,Dylan Spalding,Alexander Hoischen,Sergi Beltran,Sergi Beltran,Holm Graessner +32 more
TL;DR: Solve-RD as mentioned in this paper is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries to solve unsolved rare diseases for which a molecular cause is not yet known.